{"id":1905,"date":"2023-10-12T13:06:08","date_gmt":"2023-10-12T13:06:08","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1905"},"modified":"2026-02-22T23:51:59","modified_gmt":"2026-02-22T23:51:59","slug":"genetic-complexity-of-diagnostically-unresolved-ehlers-danlos-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/10\/12\/genetic-complexity-of-diagnostically-unresolved-ehlers-danlos-syndrome\/","title":{"rendered":"Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome (Contributed by Professor Timothy J Aitman, on behalf of the authors)"},"content":{"rendered":"<p>Ehlers-Danlos syndromes (EDS) are heritable connective tissue disorders associated with joint hypermobility, skin extensibility and tissue fragility.\u00a0 We report the results of whole exome sequencing and genetic burden analysis for 174 patients with complex EDS, recruited from two UK specialist clinics, who remained without a molecular diagnosis despite previous genetic testing. \u00a0Ten patients were found to have a diagnosis of Loeys-Dietz syndrome, myopathic or classical EDS.\u00a0 We identified rare variants in genes and pathways previously associated with EDS, EDS-like syndromes, aneurysm predisposition and candidate genes.\u00a0 Our results demonstrate the clinical utility of broad genetic testing in patients with complex EDS. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/10\/09\/jmg-2023-109329\">https:\/\/jmg.bmj.com\/content\/early\/2023\/10\/09\/jmg-2023-109329<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/10\/12\/genetic-complexity-of-diagnostically-unresolved-ehlers-danlos-syndrome\/ta_av-2\/\" rel=\"attachment wp-att-1906\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1906\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/10\/TA_AV-2-300x178.png\" alt=\"\" width=\"300\" height=\"178\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/10\/TA_AV-2-300x178.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/10\/TA_AV-2-1024x608.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/10\/TA_AV-2-768x456.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/10\/TA_AV-2-1536x912.png 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/10\/TA_AV-2-2048x1216.png 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/10\/TA_AV-2-640x380.png 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>Professor Timothy J Aitman (left) and Dr. Anthony M Vandersteen (right)<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Ehlers-Danlos syndromes (EDS) are heritable connective tissue disorders associated with joint hypermobility, skin extensibility and tissue fragility.\u00a0 We report the results of whole exome sequencing and genetic burden analysis for 174 patients with complex EDS, recruited from two UK specialist clinics, who remained without a molecular diagnosis despite previous genetic testing. \u00a0Ten patients were found [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/10\/12\/genetic-complexity-of-diagnostically-unresolved-ehlers-danlos-syndrome\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1905","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome (Contributed by Professor Timothy J Aitman, on behalf of the authors) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/10\/12\/genetic-complexity-of-diagnostically-unresolved-ehlers-danlos-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome (Contributed by Professor Timothy J Aitman, on behalf of the authors) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Ehlers-Danlos syndromes (EDS) are heritable connective tissue disorders associated with joint hypermobility, skin extensibility and tissue fragility.\u00a0 We report the results of whole exome sequencing and genetic burden analysis for 174 patients with complex EDS, recruited from two UK specialist clinics, who remained without a molecular diagnosis despite previous genetic testing. \u00a0Ten patients were found [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/10\/12\/genetic-complexity-of-diagnostically-unresolved-ehlers-danlos-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-10-12T13:06:08+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T23:51:59+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/10\/TA_AV-2-1024x608.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1024\" \/>\n\t<meta property=\"og:image:height\" content=\"608\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/10\\\/12\\\/genetic-complexity-of-diagnostically-unresolved-ehlers-danlos-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/10\\\/12\\\/genetic-complexity-of-diagnostically-unresolved-ehlers-danlos-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome (Contributed by Professor Timothy J Aitman, on behalf of the authors)\",\"datePublished\":\"2023-10-12T13:06:08+00:00\",\"dateModified\":\"2026-02-22T23:51:59+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/10\\\/12\\\/genetic-complexity-of-diagnostically-unresolved-ehlers-danlos-syndrome\\\/\"},\"wordCount\":136,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/10\\\/12\\\/genetic-complexity-of-diagnostically-unresolved-ehlers-danlos-syndrome\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2023\\\/10\\\/TA_AV-2-300x178.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/10\\\/12\\\/genetic-complexity-of-diagnostically-unresolved-ehlers-danlos-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/10\\\/12\\\/genetic-complexity-of-diagnostically-unresolved-ehlers-danlos-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/10\\\/12\\\/genetic-complexity-of-diagnostically-unresolved-ehlers-danlos-syndrome\\\/\",\"name\":\"Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome (Contributed by Professor Timothy J Aitman, on behalf of the authors) - 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